ESPE Yearbook of Paediatric Endocrinology

Brief summary: This study describes the genetic and clinical characteristics of 3βHSD2 deficiency in children seen at a single center in Algeria. It describes clinical outcomes, including the frequency of adrenal rest tumors in this population.3β-hydroxysteroid dehydrogenase 2 deficiency (3βHSD2) is a rare form of congenital adrenal hyperplasia. This mixed longitudinal and cross-sectional study was performed in a single Algerian center bet...

J Clin Invest. 2020 Aug 3;130(8):4501–4515. doi: 10.1172/JCI136745. PMID: 32453714.This study used mouse models to investigate the role of LIM homeodomain transcription factor Isl1 in pituitary development. It reveals that Isl1 has multiple, critical roles in pituitary gland development. Pituitary-specific Isl1 deletion caused hypopituitarism with increased stem c...

BMJ Open. 2020 Dec 24;10(12):e045335. doi: 10.1136/bmjopen-2020-045335. PMID: 33361084This BMJ review aimed to assess the accuracy of CGM devices to detect hypoglycaemia and hyperglycaemia in preterm infants. The key take home messages from the BMJ review were that the sensitivity for CGM devices to diagnose and detect hypoglycaemia in preterm infants was poor but the specificity was h...

Int J Obes (Lond). 2020 Oct;44(10):2011–2022. 10.1038/s41366-020-0644-1. https://pubmed.ncbi.nlm.nih.gov/32713944/Schur et al. addressed the question, whether responsiveness to visual food cues in functional magnetic resonance imaging (fMRI) is related to the treatment success of a 6-month Family-based Behavioral Treatment (...

J Pediatr Adolesc Gynecol 2020 Oct;33(5):477-483. doi: 10.1016/j.jpag.2020.04.008– Body image and perceptions around feminizing genitoplasty were assessed in 59 children, adolescents and adults with CAH (raised and identifying as females) and their parents– Participants were more concerned with their overall appearance than with appearance of genitalia– A younger age and ...

Nature 2020 Dec; 588(7836): 112–117https://go.nature.com/3go7UjOThirst is sensed by two distinct types of stimuli – osmotic and hypovolaemic. The authors show that in mice these two stimuli act via separate mechanisms and neuron types, and lead to distinct drinking behavioural responses. High blood osmolality induces osmotic thirst that drives water consumption. By contrast, hypovolaemia driv...

Hum Genet. 2021 Nov;140(11):1553-1562. doi: 10.1007/s00439-021-02259-2.Brief Summary: This paper describes 5 related Karelian Bear Dogs (KBDs) with a canine hypopituitarism phenotype. Genome-wide association analysis (GWAS) and next-generation sequencing revealed a homozygous candidate gene defect in POU1F1. The study thus presents a novel animal model for human hypopituitarism.</...

Pediatrics. 2022 1;149(6):e2021050733. doi: 10.1542/peds.2021-050733. PMID: 35582897.Brief Summary: This randomized clinical trial in ‘at-risk’ neonates with asymptomatic hypoglycemia tested whether oral dextrose gel prevented the need for intravenous fluids. Oral dextrose gel reduced the need for intravenous fluids as well as admission to the neonatal intensive care unit (NICU).</...

randi.lykke-sylvest@regionh.dk Human Reproduction, Vol.36, No.9, pp. 2576–2586, 2021. PMID: 34166497.Brief Summary: This Danish register-based cohort study investigated the rate of fatherhood among 9,353 men diagnosed with cancer during childhood or early adulthood (CSs), compared with 1,386,493 age-matched males without cancer. CSs became fathers slightly less frequently than controls (36...

robertkj@uwm.edu International Journal of Obesity 2022 May 13:1–9. doi: 10.1038/s41366-022-01139-7. https://pubmed.ncbi.nlm.nih.gov/35562395/Brief Summary: This exploratory study presents the findings and experiences from n=117 children with obesity (BMI &gE;97th percentile for age...